Canonical Allele Identifier: CA494111438

Gene: OTOA

Linked Data

• gnomAD v4: 16-21728378-C-T
• MyVariant Identifiers: chr16:g.21739699C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21728378C>T , CM000678.2:g.21728378C>T	GRCh38
NC_000016.9:g.21739699C>T , CM000678.1:g.21739699C>T	GRCh37
NC_000016.8:g.21647200C>T	NCBI36
NG_012973.1:g.54865C>T
NG_012973.2:g.69246C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.2154C>T	ENSP00000373610.3:p.Asp718=
ENST00000646100.2:c.2154C>T MANE Select	ENSP00000496564.2:p.Asp718=
ENST00000647277.1:c.*968C>T	ENSP00000495594.1:n.*968C>T
ENST00000286149.8:c.2196C>T	ENSP00000286149.4:p.Asp732=
ENST00000388956.8:c.1917C>T	ENSP00000373608.4:p.Asp639=
ENST00000388957.3:c.1182C>T	ENSP00000373609.3:p.Asp394=
ENST00000388958.7:c.2154C>T	ENSP00000373610.3:p.Asp718=
ENST00000563871.5:n.1617C>T
NM_001161683.1:c.1917C>T	NP_001155155.1:p.Asp639=
NM_144672.3:c.2154C>T	NP_653273.3:p.Asp718=
NM_170664.2:c.1182C>T	NP_733764.1:p.Asp394=
XM_011545747.1:c.2154C>T	XP_011544049.1:p.Asp718=
XM_011545748.1:c.1023C>T	XP_011544050.1:p.Asp341=
NM_144672.4:c.2154C>T MANE Select	NP_653273.3:p.Asp718=
XM_011545748.2:c.1023C>T	XP_011544050.2:p.Asp341=
XM_017022951.1:c.420C>T	XP_016878440.1:p.Asp140=
XR_002957775.1:n.1249C>T
NM_001161683.2:c.1917C>T	NP_001155155.1:p.Asp639=
NM_170664.3:c.1182C>T	NP_733764.1:p.Asp394=